ODCs

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1 OMIM reference -
1 associated gene
15 signs/symptoms

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Lethal ataxia with deafness and optic atrophy

Distal 17p13.3 microdeletion syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PRPS1	(0.63)	YWHAE

Citations in the biomedical literature:

Lethal ataxia with deafness and optic atrophy		Distal 17p13.3 microdeletion syndrome
	Synonym(s): - Arts syndrome		Synonym(s): - Distal del(17)(p13.3 ) - Distal monosomy 17p13.3

	Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive		Epidemiological data: (no data available)

	External references: 1 OMIM reference - No MeSH references		External references: No OMIM references No MeSH references

Lethal ataxia with deafness and optic atrophy
	Very frequent - Areflexia / hyporeflexia - Ataxia / incoordination / trouble of the equilibrium - Death in infancy - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypotonia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Nerve conduction abnormality - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Peripheral neuropathy - Sensorineural deafness / hearing loss - Visual loss / blindness / amblyopia Frequent - Muscle weakness / flaccidity - Respiratory distress / dyspnea / respiratory failure / lung volume reduction Occasional - Pancreatic fibrosis
Distal 17p13.3 microdeletion syndrome
(no data available)